2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Characteristics of Participants Who Opt to Receive Secondary Findings in SPARK

Pdf Summary

The SPARK (Simons Foundation Powering Autism Research for Knowledge) program, with over 100,000 participants with autism, uses online access and medical information to provide genetic knowledge to participants. They have started returning secondary genetic findings to participants based on specific recommendations. In a study of 70,467 participants, the researchers identified 898 disease-associated genetic variants related to breast and ovarian cancer, Lynch syndrome, and familial hypercholesterolemia. They contacted participants with confirmed pathogenic variants and offered them the secondary findings. Of the participants notified, 75.2% took steps to receive the results.<br /><br />The researchers also examined the participants' understanding of the secondary findings and their demographics. They found that those who believed their or their child's autism was genetic were more likely to complete the consent task. Education and income levels did not significantly impact understanding or the likelihood of taking steps to receive the findings. Participant engagement in research did not predict quiz scores or the likelihood of taking steps to receive secondary findings, but participants were more likely to complete the consent if they received it within two years of registering for SPARK.<br /><br />Overall, the study found that participant characteristics did not significantly affect their understanding or actions regarding secondary findings. Belief in the genetics of autism emerged as the strongest predictor of task completion. However, further research is needed to identify additional factors that influence participant understanding and actions.<br /><br />The study was funded by the Simons Foundation as part of SFARI, and researchers can obtain the SPARK cohort data through an application process.

Asset Subtitle

Presenting Author - Alexandra Goler, BS; Co-Author - Jessica R. Wright, PhD; Co-Author - Sarah D. Barns, MPH; Co-Author - Jacob B. Hall, PhD; Co-Author - Bing Han, MS; Co-Author - Irina Astrovskaya, PhD; Co-Author - The SPARK Consortium, -; Co-Author - Natalia Volfovsky, PhD; Co-Author - Pamela Feliciano, PhD; Co-Author - Wendy K. Chung, MD PhD;

Meta Tag

Bioinformatics

Cancer Syndromes

Cognitive Disorders

Education

Exome sequencing

Genetic Testing

Methodology

Neuroscience

Co-Author Jessica R. Wright, PhD

Co-Author Sarah D. Barns, MPH

Co-Author Jacob B. Hall, PhD

Co-Author Bing Han, MS

Co-Author Irina Astrovskaya, PhD

Co-Author The SPARK Consortium, -

Co-Author Natalia Volfovsky, PhD

Co-Author Pamela Feliciano, PhD

Co-Author Wendy K. Chung, MD PhD

Presenting Author Alexandra Goler, BS

Keywords

SPARK program

Simons Foundation

autism research

genetic knowledge

secondary genetic findings

breast cancer

ovarian cancer

Lynch syndrome

familial hypercholesterolemia

participant engagement